Open AccessCan genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage‐refractory itch
Author(s) -
Holz Robert,
Kremer Andreas E.,
Lütjohann Dieter,
Wasmuth Hermann E.,
Lammert Frank,
Krawczyk Marcin
Publication year - 2018
Publication title -
hepatology communications
Language(s) - English
Resource type - Journals
ISSN - 2471-254X
DOI - 10.1002/hep4.1144
Subject(s) - cholestasis , medicine , refractory (planetary science) , gastroenterology , bile salt export pump , chemistry , biology , gene , biochemistry , transporter , astrobiology
Benign recurrent intrahepatic cholestasis (BRIC) is a peculiar familial disease caused by mutations of the genes encoding hepatocanalicular flippase for phosphatidylserine (ATP8B1; BRIC type 1) or the bile salt export pump (ABCB11; BRIC type 2). Here, we report on a patient with nasobiliary drainage‐refractory BRIC type 2 who improved under plasma separation and anion absorption therapy. We also suggest that nasobiliary drainage might be an ineffective approach in carriers of severe loss‐of‐function mutations of the bile salt export pump ABCB11. ( Hepatology Communications 2018;2:152–154)